Canonical Allele Identifier: CA524697306
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1454514800
gnomAD v2: 1-94463343-A-G
gnomAD v3: 1-93997787-A-G
gnomAD v4: 1-93997787-A-G
MyVariant Identifiers: chr1:g.94463343A>G (hg19) chr1:g.93997787A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997787A>G , CM000663.2:g.93997787A>G GRCh38
NC_000001.10:g.94463343A>G , CM000663.1:g.94463343A>G GRCh37
NC_000001.9:g.94235931A>G NCBI36
NG_009073.1:g.128363T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+74T>C MANE Select ENSP00000359245.3:n.6729+74T>C
ENST00000370225.3:c.6729+74T>C ENSP00000359245.3:n.6729+74T>C
ENST00000536513.5:c.3105+74T>C ENSP00000439707.2:n.3105+74T>C
NM_000350.2:c.6729+74T>C NP_000341.2:n.6729+74T>C
NM_000350.3:c.6729+74T>C MANE Select NP_000341.2:n.6729+74T>C
Search 100 bp 5'
Search 100 bp 3'